EFCAB9 Gene (Protein Coding)

EF-Hand Calcium Binding Domain 9

GC05P172198
GIFtS:
27
This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017] See more...

Aliases for EFCAB9 Gene

Aliases for EFCAB9 Gene

  • EF-Hand Calcium Binding Domain 9 2 3 5
  • EF-Hand Calcium-Binding Domain-Containing Protein 9 3 4
  • EFCAB9 5

External Ids for EFCAB9 Gene

Previous GeneCards Identifiers for EFCAB9 Gene

  • GC05P171554
  • GC05P166716

Summaries for EFCAB9 Gene

Entrez Gene Summary for EFCAB9 Gene

  • This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017]

GeneCards Summary for EFCAB9 Gene

EFCAB9 (EF-Hand Calcium Binding Domain 9) is a Protein Coding gene. Diseases associated with EFCAB9 include Anemia, Congenital Dyserythropoietic, Type Ia. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CALM2.

UniProtKB/Swiss-Prot Summary for EFCAB9 Gene

  • pH-dependent Ca(2+) sensor required to activate the CatSper channel, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Associates with the CatSper complex via direct interaction with CATSPERZ, and senses intracellular Ca(2+). Together with CATSPERZ, associates with the CatSper channel pore and is required for the two-row structure of each single CatSper channel.

Additional gene information for EFCAB9 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EFCAB9 Gene

Genomics for EFCAB9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for EFCAB9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFCAB9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFCAB9

Genomic Locations for EFCAB9 Gene

Genomic Locations for EFCAB9 Gene
chr5:172,194,172-172,203,454
(GRCh38/hg38)
Size:
9,283 bases
Orientation:
Plus strand
chr5:171,621,176-171,630,458
(GRCh37/hg19)
Size:
9,283 bases
Orientation:
Plus strand

Genomic View for EFCAB9 Gene

Genes around EFCAB9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB9 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EFCAB9 Gene

Proteins for EFCAB9 Gene

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  • Protein details for EFCAB9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MZ26-EFCB9_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 9
    Protein Accession:
    A8MZ26

    Protein attributes for EFCAB9 Gene

    Size:
    197 amino acids
    Molecular mass:
    23937 Da
    Quaternary structure:
    • Interacts with CATSPERZ; the interaction is direct, Ca(2+)-dependent and connects EFCAB9 with the CatSper complex. Dissociates from CATSPERZ at elevated pH.

neXtProt entry for EFCAB9 Gene

Protein Expression for EFCAB9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EFCAB9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFCAB9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EFCAB9 Gene

Domains & Families for EFCAB9 Gene

Gene Families for EFCAB9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EFCAB9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFCAB9 Gene

GenScript: Design optimal peptide antigens:
  • EF-hand calcium-binding domain-containing protein 9 (EFCB9_HUMAN)
genes like me logo Genes that share domains with EFCAB9: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EFCAB9 Gene

Function for EFCAB9 Gene

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  2. CRISPR
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Molecular function for EFCAB9 Gene

UniProtKB/Swiss-Prot Function:
pH-dependent Ca(2+) sensor required to activate the CatSper channel, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Associates with the CatSper complex via direct interaction with CATSPERZ, and senses intracellular Ca(2+). Together with CATSPERZ, associates with the CatSper channel pore and is required for the two-row structure of each single CatSper channel.

Phenotypes From GWAS Catalog for EFCAB9 Gene

Gene Ontology (GO) - Molecular Function for EFCAB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding ISS --
GO:0046872 metal ion binding IEA --
GO:0061891 calcium ion sensor activity IEA,ISS --
genes like me logo Genes that share ontologies with EFCAB9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCAB9

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EFCAB9 Gene

Localization for EFCAB9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFCAB9 Gene

Cytoplasm. Cell projection, cilium, flagellum. Note=Localizes to the principal piece of the sperm tail. {ECO:0000250 UniProtKB:Q9DAM2}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EFCAB9 gene
Compartment Confidence
cytosol 3
plasma membrane 1
golgi apparatus 1
mitochondrion 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for EFCAB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005929 cilium IEA --
GO:0031514 motile cilium IEA --
GO:0042995 cell projection IEA --
GO:0097228 sperm principal piece IEA,ISS --
genes like me logo Genes that share ontologies with EFCAB9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EFCAB9 Gene

Pathways & Interactions for EFCAB9 Gene

PathCards logo

SuperPathways for EFCAB9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFCAB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA,ISS --
GO:0030317 flagellated sperm motility IEA,ISS --
GO:0048240 sperm capacitation IEA,ISS --
genes like me logo Genes that share ontologies with EFCAB9: view

No data available for Pathways by source and SIGNOR curated interactions for EFCAB9 Gene

Drugs & Compounds for EFCAB9 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for EFCAB9 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EFCAB9 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCAB9

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB9 Gene

No ASD Table

Relevant External Links for EFCAB9 Gene

GeneLoc Exon Structure for
EFCAB9

Expression for EFCAB9 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EFCAB9 Gene

mRNA expression in normal human tissues for EFCAB9 Gene
mRNA expression by GTEx for EFCAB9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFCAB9 Gene

This gene is overexpressed in Testis (x45.8).

Protein differential expression in normal tissues from HIPED for EFCAB9 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFCAB9 Gene



Protein tissue co-expression partners for EFCAB9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EFCAB9

SOURCE GeneReport for Unigene cluster for EFCAB9 Gene:

Hs.716824
genes like me logo Genes that share expression patterns with EFCAB9: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFCAB9 Gene

Orthologs for EFCAB9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCAB9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia EFCAB9 30 31
  • 99.32 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia EFCAB9 30 31
  • 82.97 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia EFCAB9 30 31
  • 82.2 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Efcab9 30
  • 76.83 (n)
Mouse
(Mus musculus)
 Mammalia Efcab9 30 17 31
  • 76.19 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia EFCAB9 31
  • 56 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia EFCAB9 31
  • 55 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia EFCAB9 31
  • 46 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 44 (a)
 OneToOne
Species where no ortholog for EFCAB9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for EFCAB9 Gene

ENSEMBL:
Gene Tree for EFCAB9 (if available)
TreeFam:
Gene Tree for EFCAB9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EFCAB9: view image

Paralogs for EFCAB9 Gene

Paralogs for EFCAB9 Gene

genes like me logo Genes that share paralogs with EFCAB9: view

Variants for EFCAB9 Gene

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Additional dbSNP identifiers (rs#s) for EFCAB9 Gene

Structural Variations from Database of Genomic Variants (DGV) for EFCAB9 Gene

Variant ID Type Subtype PubMed ID
esv2759392 CNV gain+loss 17122850
nsv1015251 CNV gain 25217958

Variation tolerance for EFCAB9 Gene

Gene Damage Index Score: 2.89; 48.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFCAB9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFCAB9 Gene

Disorders for EFCAB9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EFCAB9 Gene - From: DISEASES

Disorder Aliases PubMed IDs
anemia, congenital dyserythropoietic, type ia
  • cdan1a
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EFCAB9

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with EFCAB9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EFCAB9 Gene

Publications for EFCAB9 Gene

  1. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. Structural basis for diversity of the EF-hand calcium-binding proteins. (PMID: 16678204) Grabarek Z (Journal of molecular biology 2006) 3
  4. Target selectivity in EF-hand calcium binding proteins. (PMID: 15590057) Bhattacharya S … Chazin WJ (Biochimica et biophysica acta 2004) 3
  5. Structures, functions and molecular evolution of the penta-EF-hand Ca2+-binding proteins. (PMID: 12445459) Maki M … Shibata H (Biochimica et biophysica acta 2002) 3

ExternalLinks

View latest publications for EFCAB9 gene in Mastermind

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